title: Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization.
abstract: OBJECTIVE
  The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH) to detect microdeletions and microduplications in congenital conotruncal defects (CTDs), especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23 and 4p16.3.
  
  
  METHODS
  Twenty-seven patients with CTDs, including 12 pulmonary atresia (PA), 10 double-outlet right ventricle (DORV), 3 transposition of great arteries (TGA), 1 tetralogy of Fallot (TOF) and one ventricular septal defect (VSD), were enrolled in this study and screened for pathogenic copy number variations (CNVs), using Agilent 8 x 15K targeted aCGH. Real-time quantitative polymerase chain reaction (qPCR) was performed to test the molecular results of targeted aCGH.
  
  
  RESULTS
  Four of 27 patients (14.8%) had 22q11.2 CNVs, 1 microdeletion and 3 microduplications. qPCR test confirmed the microdeletion and microduplication detected by the targeted aCGH.
  
  
  CONCLUSIONS
  Chromosomal abnormalities were a well-known cause of multiple congenital anomalies (MCA). This aCGH using arrays with high-density coverage in the targeted regions can detect genomic imbalances including 22q11.2 and other 10 kinds CNVs effectively and quickly. This approach has the potential to be applied to detect aneuploidy and common microdeletion/microduplication syndromes on a single microarray.
authors.affiliation: Obstetrics and Gynecology Hospital of Shanghai Fudan University, the Shanghai Key Laboratory of Female Reproductive Endocrine-Related Diseases, Shanghai, China.
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Gong
authors.forename: Xi
authors.initials: X
authors.lastname: Wu
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Ma
authors.forename: Dandan
authors.initials: D
authors.lastname: Wu
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.forename: Li
authors.initials: L
authors.lastname: He
authors.forename: Shengying
authors.initials: S
authors.lastname: Qin
authors.forename: Xiaotian
authors.initials: X
authors.lastname: Li
mesh_terms: D044466:Asian People; D002681:China; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D010641:Phenotype; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods